ClinVar Miner

List of variants reported as pathogenic for Apert syndrome by OMIM

Included ClinVar conditions (4):

Acrocephalosyndactyly type I
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Neoplasm of stomach; Bent bone dysplasia syndrome 1
Acrocephalosyndactyly type I; Pfeiffer syndrome; Crouzon syndrome

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	rs79184941
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe)	rs121918498
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	rs77543610
NM_000141.5:c.1040_1041ins[N[360];1026_1040]

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